Przeglądanie według Temat "adrenoleukodystrophy"

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    Adrenomyeloneuropathy – a case report
    (Wydawnictwo Uniwersytetu Rzeszowskiego, 2019) Leksa, Natalia; Aebisher, David; Galiniak, Sabina; Uberman-Kluz, Dominika; Bartosz, Seweryn; Bartusik-Aebisher, Dorota
    Introduction. Adrenoleukodystrophy is a genetic disorder linked to the X chromosome, in which the peroxisomal beta-oxidation process is disturbed. It is a metabolic disease that results in the accumulation of very long chain fatty acids (VLCFAs - very long chain fatty acids) responsible for the symptoms of damage to the adrenal cortex, gonads and the brain. Aim. A clinical case is reported. Description of case. This article describes the case of a 64-year-old woman who had neurological symptoms for many years, gradually increasing without significant improvement after the treatment (periodic steroid therapy). Conclusion. Based on tests (including the determination of the ABCD1 gene and very long chain fatty acids - VLCFA), adrenoleukodystrophy was suspected.